• chromosomal
  • Large chromosomal abnormalities such as trisomies 21, 13, and 18 cause about 5-8% of cases of CHD, with trisomy 21 being the most common genetic cause. (wikipedia.org)
  • Small chromosomal abnormalities also frequently lead to congenital heart disease, and examples include microdeletion of the long arm of chromosome 22 (22q11, DiGeorge syndrome), the long arm of chromosome 1 (1q21), the short arm of chromosome 8 (8p23) and many other, less recurrent regions of the genome, as shown by high resolution genome-wide screening (Array comparative genomic hybridization). (wikipedia.org)
  • Skeletal
  • Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type II, and short rib-polydactyly syndrome, is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia (skeletal abnormalities in the development of bone and cartilage) with a narrow thorax, polysyndactyly, disproportionately short tibiae, thorax dysplasia, hypoplastic lungs and respiratory insufficiency. (wikipedia.org)
  • Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp, associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system, and genitourinary system. (wikipedia.org)
  • Skeletal abnormalities may include dental irregularities, scoliosis, vitamin D-resistant rickets and hypophosphatemia. (wikipedia.org)
  • The choice of imaging studies depends on the suspected abnormalities and might include skeletal survey, CT scan of the head, MRI, and/or EEG. (wikipedia.org)
  • hypospadias
  • Genital abnormalities like a urinary opening under the penis (hypospadias), undescended testes (cryptorchidism), underdeveloped scrotum and a scrotum divided into two lobes (bifid scrotum) can all be commonplace for males with the disease. (wikipedia.org)
  • pulmonary
  • In right atrial isomerism, both atria of the heart are morphological right atria leading to associated abnormalities in the pulmonary venous system. (wikipedia.org)
  • Abnormalities on chest radiographs may be suggestive of, but are never diagnostic of, TB but can be used to rule out pulmonary TB. (wikipedia.org)
  • growth retardation
  • However, diagnosis may be more difficult to establish in adults patients, such as: blepharophimosis, contractures, growth retardation, and developmental delay, whereas minor face anomalies are less noticeable as the patient grows older. (wikipedia.org)
  • aplasia
  • Problems with the development of the vagina (Müllerian aplasia) Eyes: Cataracts Heart abnormalities and cardiovascular anomalies (30% of the cases): Anomalous origin of the coronary artery (Class II-deletion) Kidneys: Missing kidney or floating kidneys Cancer: Neuroblastoma Sleep disturbances It is not clear whether the list of symptoms is complete. (wikipedia.org)
  • Obstruction
  • Renal abnormalities in VACTERL association can be severe, with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. (wikipedia.org)
  • larynx
  • Abnormalities in the larynx, trachea and esophagus can cause significant difficulty breathing and/or swallowing and can result in reoccurring pneumonia and life-threatening situations. (wikipedia.org)
  • mortality
  • Secondary endpoints included cardiovascular mortality, exercise capacity (six-minute walk test) and health-related quality of life, adverse effects, and the relative cost-effectiveness of LVADs versus medical management. (bioportfolio.com)
  • symptoms
  • citation needed] Since abnormalities of cilia are known to be related to a wide range of disease symptoms including those commonly seen in BBS patients, it is now widely accepted that mutated BBS genes affect normal cilia function, which, in turns, causes BBS. (wikipedia.org)
  • Secondary
  • Poisoning with a xenobiotic may lead to development of acid base disturbances, hypoxia, or electrolyte abnormalities with secondary hemodynamic changes. (mhmedical.com)
  • severe
  • The dermatological anomalies were remarkable as he showed severe skin laxity with wrinkling of skin on all parts of the body due to loss of subcutaneous fat that decreased significantly by age 13 months. (manipal.edu)
  • patients
  • In observational studies, lower vitamin D levels have been associated with higher cardiovascular risk, so some clinicians (including cardiologists in my community) are advising patients to take vitamin D supplements explicitly to lower cardiovascular risk. (markdrugs.com)
  • This study will be testing two devices which are designed to detect cardiovascular disease in patients as early as possible. (bioportfolio.com)
  • In these patients, supportive care with ventilation, oxygenation, and fluid and electrolyte repletion may improve the cardiovascular status. (mhmedical.com)
  • vitamin
  • Do Vitamin D Supplements Improve Cardiovascular Risk Factors? (markdrugs.com)
  • To determine whether vitamin D supplements favorably alter conventional cardiovascular risk factors, U.K. researchers randomized 305 postmenopausal women (mean age, 64) without known cardiovascular disease to receive vitamin D3 supplements (either 400 or 1000 IU daily) or placebo. (markdrugs.com)
  • Conditions
  • Underlying medical conditions, presence of other xenobiotics, electrolyte abnormalities, concurrent acid-base, and hydration status can all contribute to the potential adverse hemodynamic effects of a xenobiotic. (mhmedical.com)
  • Indirect nonfatal catastrophic injury may occur as a result of systemic failure from exertion during an activity, such as from cardiovascular conditions, heat illness, exertional hyponatremia, or dehydration, or a complication to a nonfatal injury. (wikipedia.org)